Variant Details

Variant: dgv26e203

Internal ID

20126251

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr12:31080036..31264457	hg38	UCSC Ensembl
	chr12:31232970..31417391	hg19	UCSC Ensembl
	chr12:31124237..31308658	hg18	UCSC Ensembl

Cytoband

12p11.21

Allele length

Assembly	Allele length
hg38	184422
hg19	184422
hg18	184422

Variant Type

CNV gain

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

esv2760232, esv2760888

Samples

SW_1125, SW_0831, SW_0636, SW_0201, SW_0889, RW_0075, SW_1343, SW_1324, RW_0006, SW_1314, SW_1325, RW_0134, SW_0086, RW_0168, RW_0205, SW_0875, SW_1020, RW_0255, RW_0551, SW_0311, SW_0047, SW_1309, RW_0017, SW_0214, RW_0539, RW_0103, SW_1333, RW_0321, SW_1043, SW_1131, SW_1270, SW_1465, RW_0593, SW_1356, RW_0129, SW_1012, RW_0328, SW_1415, SW_1089, RW_0126, SW_1345, SW_0678, SW_1429, RW_0632, SW_1463, SW_0155, SW_0144, SW_1209, SW_0690, RW_0550, RW_0139, SW_1430, SW_1203

Known Genes

DDX11

Method

Merging

Analysis

Two different algorithms (PennCNV and Birdseye) were applied to detect CNVs. Only congruent CNV events regarding direction of effect that were detected by both algorithms were merged using the outer borders of the event in a first step. In a second step only CNVs that were detected in at least two individuals were merged into a CNVR.

Platform

Merging

Comments

Reference

Vogler_et_al_2010

Pubmed ID

21179565

Accession Number(s)

dgv26e203

Frequency

Sample Size	1109
Observed Gain	53
Observed Loss	0
Observed Complex	0
Frequency	n/a